Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ENROLLING_BY_INVITATION
650 participants
OBSERVATIONAL
2024-01-01
2026-09-01
Brief Summary
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To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.
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Detailed Description
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Conditions
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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Keratinisation disorders
Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.
No interventions assigned to this group
Skin fragility disorders
Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
No interventions assigned to this group
Ectodermal dysplasias
Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth.
No interventions assigned to this group
Dermato-oncogenetic syndromes
This group are genodermatoses associated with the development of malignancies ((non-)cutaneous), such as basal cell nevus syndrome (BCNS), Birt-Hoog-Dubé syndrome, tuberous sclerosis, etc.
No interventions assigned to this group
Other genodermatoses
In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Prenatal diagnosis (PND) was performed and/or in vitro fertilisation (IVF) with pre-implantation genetic testing was performed (PGT).
ALL
No
Sponsors
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Maastricht University Medical Center
OTHER
Responsible Party
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Principal Investigators
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Antoni Gostynski, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Maastricht University Medical Center
Locations
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Maastricht University Medical Center
Maastricht, Limburg, Netherlands
Countries
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Other Identifiers
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METC 2023-0182
Identifier Type: -
Identifier Source: org_study_id
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